Kodi mwana wanu akuvutika ndi vutoli? Tiyeni tikambirane za Edwards Syndrome kapena Trisomy 18.

Kwa inu amene mukuyembekezera kukhala mayi, kapena amene mukuyembekezera kuti membala watsopano alowe m'banja lanu, izi zingamveke ngati zovuta pang'ono. Komabe, pali zinthu zina zomwe nthawi zina sitikonda kumva, koma ndizofunikira kwambiri kuzidziwa. Lero tikambirana za vuto limodzi lotere. Ndi Edwards Syndrome, yomwe imadziwikanso kuti Trisomy 18, matenda oopsa kwambiri a majini.

Kodi Edwards Syndrome ndi chiyani?

Mwachidule, Edwards Syndrome ndi matenda a majini omwe amakhudza kwambiri kukula ndi chitukuko cha mwana . Makanda obadwa ndi vutoli nthawi zambiri amabadwa ndi kulemera kochepa. Amakhalanso ndi zilema zosiyanasiyana zobadwa nazo komanso mawonekedwe ake enieni. Ndizachibadwa kumva chisoni komanso mantha mukamva izi. Koma tiyeni tikambirane zambiri za izi, chabwino?

Ndani angadwale matenda a Edwards Syndrome (Trisomy 18)?

Ndipotu, matenda a Edwards Syndrome (Trisomy 18) amatha kuchitika kwa mwana aliyense . Amangochitika mwangozi, zomwe zikutanthauza kuti sizikuyembekezeredwa, pamene kopi yowonjezera ya chromosome 18 ipezeka m'maselo a mwana. Komabe, zapezeka kuti mayi akakula, ndiko kuti, ngati mayi ali ndi zaka zoposa 35 panthawi ya mimba, chiopsezo cha matendawa chimakhala chachikulu . Koma kumbukirani, ngati mwana mmodzi ali ndi vutoli, mwayi woti mwana wotsatira akhale nalo ndi wochepa kwambiri (osakwana 1%).

Kodi matenda a Edwards Syndrome (Trisomy 18) ndi ofala bwanji?

Matendawa, Edwards Syndrome (Trisomy 18), amapezeka mwa mayi mmodzi pa ana 5,000 aliwonse mpaka 6,000 obadwa amoyo. Komabe, panthawi ya mimba, vutoli limakhala lofala pang'ono, ndipo limapezeka mwa mayi mmodzi pa ana 2,500 aliwonse obadwa. N'zomvetsa chisoni kuti mavuto okhudzana ndi matendawa nthawi zambiri amachititsa kuti munthu asatenge mimba (kutaya mimba) kapena kubereka mwana wakufa .

Kodi Edwards Syndrome (Trisomy 18) inapezeka liti?

Matendawa, otchedwa Edwards syndrome (Trisomy 18), adapezeka koyamba mu 1960 ndi John Hilton Edwards ndi gulu lake. Anawapeza pamene ankafufuza mwana wakhanda yemwe anali ndi mavuto osiyanasiyana obadwa nawo komanso mavuto a kukula kwa nzeru. Anati vutoli linayamba chifukwa chowonjezera kopi yachitatu ya chromosome 18 (ndichifukwa chake imatchedwa trisomy 18).

Kodi zizindikiro za Edwards Syndrome (Trisomy 18) ndi ziti?

Zizindikiro za mwana yemwe ali ndi matenda a Edwards syndrome (Trisomy 18) nthawi zambiri zimawonekera asanabadwe komanso atabadwa . Zizindikiro zazikulu zimaphatikizapo kukula pang'ono, zilema zambiri zobadwa nazo, komanso kuchedwa kwambiri pakukula kapena mavuto a kuphunzira .

Zizindikiro zomwe zimawonedwa panthawi ya mimba

Dokotala wanu adzayang'ana zinthu izi panthawi yowunikira ultrasound panthawi ya mimba:

• Kusuntha kochepa kwambiri kwa mwana wosabadwayo.
• Chingwe chanu cha msana chili ndi mtsempha umodzi wokha (nthawi zambiri umakhala ndi iwiri).
• Chiberekerocho ndi chaching'ono kwambiri.
• Kupezeka kwa zilema zosiyanasiyana zobadwa nazo.
• Kuchuluka kwa madzi amniotic ozungulira mwana wosabadwayo kumatchedwa ``polyhydramnios''.

Ngakhale kuti ana ena omwe ali ndi matenda a Edwards Syndrome amabadwa ali ndi moyo, nthawi zambiri amataya mimba kapena kufa m'miyezi itatu yoyambirira ya mimba .

Zizindikiro zomwe zimawonedwa pambuyo pobereka

Mwana akabadwa, mwana amene ali ndi matenda a Edwards (Trisomy 18) akhoza kukhala ndi makhalidwe awa:

• Kuchepa kwa minofu (hypotonia) - mwana amamva wofewa kwambiri.
• Ma Earlobes amakhala otsika kuposa masiku onse.
• Ziwalo zamkati (monga mtima ndi mapapo) sizingapangidwe bwino kapena ntchito yawo ingasinthe.
• Mavuto a chitukuko cha nzeru (nthawi zambiri amakhala ovuta kwambiri ).
• Zala za mapazi zomwe zili pamwamba pa zina ndi/kapena mapazi omwe amakokedwa pamodzi (`(mapazi a club)`).
• Thupi, mutu, pakamwa, ndi nsagwada ndi zazing'ono kwambiri.
• Kulira pang'ono kwambiri komanso kuyankha pang'ono kwambiri phokoso .

Zizindikiro zoopsa za matenda a Edwards (Trisomy 18)

Popeza thupi la mwana yemwe ali ndi matenda a Edwards Syndrome (Trisomy 18) silinakule mokwanira, zotsatirapo zake zimakhala zoopsa kwambiri, nthawi zambiri zimaika moyo pachiswe . Zina mwa izo ndi izi:

• Matenda a mtima obadwa nawo komanso matenda a impso.
• Kulephera kupuma bwino (kulephera kupuma).
• Mavuto ndi zilema zobadwa nazo m'mimba (`(M'mimba)`) ndi khoma la m'mimba.
• Hernias (`(Hernias)`).
• Scoliosis.

Taganizirani izi: Pafupifupi 90% ya makanda omwe ali ndi matenda a Edwards Syndrome (Trisomy 18) ali ndi matenda a mtima. Ichi ndi chomwe chimayambitsa imfa isanakwane mwa makanda amenewa, akalephera kupuma.

Kodi n’chiyani chimayambitsa matenda a Edwards Syndrome (Trisomy 18)?

Mwachidule, matenda a Edwards syndrome (Trisomy 18) amayamba chifukwa cha kukhalapo kwa makope atatu a chromosome 18 m'malo mwa awiri abwinobwino .

Tsopano, taonani, tonsefe tili ndi ma chromosome 46 m'thupi lathu, ogawika m'magulu 23. Ma chromosome amenewa ali ndi DNA yathu (malangizo omwe thupi lathu limafunikira kuti likule ndikugwira ntchito). Timapeza seti imodzi ya ma chromosome awa kuchokera kwa amayi athu ndi inayo kuchokera kwa abambo athu.

Maselo akapangidwa, amayamba ngati maselo obereketsa m'ziwalo zoberekera (umuna mwa amuna, mazira mwa akazi). Maselo amenewa amagawikana (mu njira yotchedwa ``meiosis'') ndipo amatsanzira okha kupanga maanja awiriawiri. Selo lomwe limatuluka limakhala ndi theka la kuchuluka kwa DNA monga selo loyambirira, ndiko kuti, ma chromosome 23 mwa ma chromosome 46. Ma chromosome awiri aliwonse ali ndi nambala.

Pamene ma chromosome awiriwa akuyenera kulekana panthawi yopanga mazira ndi umuna, nthawi zina ma chromosome awiriwa salekana bwino (monga chinthu chomata), ndipo makope onse awiri amathera mu dzira limodzi kapena umuna. Kenako, pakatenga umuna, amalumikizana ndi kopi imodzi kuchokera kwa kholo lina, zomwe zimapangitsa makope atatu onse . Kusagwirizana kwa chromosome kumeneku kumachitika mwachisawawa, kosayembekezereka, ndipo sikumachitika chifukwa cha chilichonse chomwe makolo adachita kale kapena panthawi ya mimba .

Pamene kopi yachitatu ya chromosome yowonjezerapo, imatchedwa trisomy. Trisomy imatanthauza chinthu chonga "matupi atatu." Munthu amene ali ndi Edwards Syndrome ali ndi kopi yachitatu ya chromosome 18 m'maselo ake.

Kodi matenda a Edwards Syndrome (Trisomy 18) amawapeza bwanji?

Kuyezetsa matenda a Edwards Syndrome (Trisomy 18) nthawi zambiri kumayamba panthawi ya mimba . Kuyezetsa matendawa kumatsimikiziridwa mwana asanabadwe kapena atabadwa. Dokotala wanu nthawi zambiri amachita ultrasound scan kuti aone zizindikiro za Edwards Syndrome (Trisomy 18) poyang'ana kayendedwe ka mwana, kuchuluka kwa madzi amniotic, ndi kukula kwa placenta. Ngati zizindikiro za matendawa zapezeka, dokotala wanu adzakulangizani kuti muyezenso kuti mutsimikizire matendawa.

Ndi mayeso ati omwe amagwiritsidwa ntchito pozindikira matenda a Edwards Syndrome (Trisomy 18)?

Pa nthawi ya mimba, ngati mwana akusonyeza zizindikiro za matenda a Edwards Syndrome (Trisomy 18), dokotala angakupatseni mayeso osiyanasiyana kuti atsimikizire matendawa, monga:

• Amniocentesis : Pakati pa masabata 15 ndi 20 a mimba, dokotala wanu adzatenga chitsanzo cha madzi amniotic ndikuchiyesa kuti adziwe thanzi la mwana wanu.
• Kuyesa kwa Chorionic Villus Sampling (CVS) : Pakati pa masabata 10 ndi 13 a mimba, dokotala wanu amatenga chitsanzo cha maselo kuchokera ku placenta ndikuwayesa kuti aone ngati ali ndi matenda a majini.
• Kuyezetsa : Pambuyo pa milungu 10 ya mimba, chitsanzo cha magazi anu chikhoza kuyesedwa kuti chione ngati mwana wanu ali ndi matenda enaake monga trisomy 18.

Mwana akabadwa, dokotala adzafufuza mtima wa mwana pogwiritsa ntchito ultrasound scan, kuzindikira mavuto aliwonse a mtima omwe angakhale atayambitsidwa ndi matendawa, ndikuchitapo kanthu kuti awachiritse.

Kodi matenda a Edwards Syndrome (Trisomy 18) amachiritsidwa bwanji?

Nthawi zambiri, vutoli limakhala lalikulu kwambiri moti ana obadwa amoyo amapatsidwa chisamaliro chotonthoza.Izi zikutanthauza kuthandiza mwana kukhala womasuka komanso wopanda ululu. Komabe, chithandizo cha Edwards Syndrome (Trisomy 18) chimasiyana kwa mwana aliyense, kutengera kuopsa kwa matendawa . Palibe mankhwala a Edwards Syndrome (Trisomy 18) .

Mankhwala a matenda a Edwards (Trisomy 18) angaphatikizepo:

• Chithandizo cha matenda a mtima : Pafupifupi makanda onse omwe ali ndi matenda a mtima a Edwards syndrome (Trisomy 18) amakhudzidwa ndi matenda a mtima. Ngakhale kuti si makanda onse omwe angachitidwe opaleshoni, ena angatero.
• Chithandizo cha kudyetsa ana : Makanda omwe ali ndi matenda a Edwards (Trisomy 18) angavutike kudya bwino chifukwa cha kuchedwa kukula. Angafunike kudyetsedwa kudzera mu chubu chodyetsera ana kuti athetse mavuto a kudyetsa ana ali aang'ono.
• Chithandizo cha mafupa : Makanda omwe ali ndi matenda a Edwards (Trisomy 18) akhoza kukhala ndi mavuto a msana, monga scoliosis. Izi zingakhudze kayendedwe ka mwana. Chithandizo cha mafupa chingaphatikizepo kulimbitsa thupi kapena opaleshoni.
• Chithandizo chamaganizo ndi cha chikhalidwe cha anthu : Kukhala ndi mwana yemwe ali ndi matenda a Edwards Syndrome (Trisomy 18) kumafuna chithandizo kwa inu, banja lanu, ndi mwana wanu. Mudzafunika chithandizo kuti muthane ndi chisoni chotaya mwana wanu, makamaka ngati mwataya mwana wanu, kapena kuti muthane ndi matenda ovuta a mwana wanu.

Kodi ndingachepetse bwanji chiopsezo cha mwana wanga kukhala ndi matenda a Edwards Syndrome (Trisomy 18)?

Popeza matenda a Edwards syndrome (Trisomy 18) kwenikweni ndi chifukwa cha kusintha kwa majini, palibe njira yopewera vutoli . Komabe, ngati mukuyenerera kuyezetsa majini ndi kuyezetsa mwana wosabadwayo (kuyezetsa majini musanayikidwe) pogwiritsa ntchito njira ya in vitro fertilization (IVF), mutha kuchepetsa kwambiri mwayi wokhala ndi mwana wokhala ndi matenda a Edwards syndrome (Trisomy 18). Ngati mukukonzekera kutenga pakati, lankhulani ndi dokotala wanu za upangiri wa majini kuti mudziwe za chiopsezo chokhala ndi mwana wokhala ndi vutoli.

Kodi chimachitika ndi chiyani ngati muli ndi mwana yemwe ali ndi matenda a Edwards Syndrome (Trisomy 18)?

Palibe mankhwala a matenda a Edwards Syndrome (Trisomy 18). Mimba zambiri zimatha ndi kupititsa padera kapena kubereka mwana wakufa . Pa mimba zomwe zimapitirira mpaka trimester yachitatu, pafupifupi 40% ya makanda omwe ali ndi matenda a Edwards Syndrome (Trisomy 18) sapulumuka kubadwa, ndipo pafupifupi gawo limodzi mwa magawo atatu a iwo omwe amapulumuka amabadwa msanga.

Chiŵerengero cha kupulumuka kwa makanda obadwa ndi Edwards Syndrome (Trisomy 18) ndi motere:

• Pakati pa 60% ndi 75% amapulumuka sabata yoyamba.
• Pakati pa 20% ndi 40% amapulumuka mwezi woyamba.
• Anthu opitilira 10% sakondwerera tsiku lawo loyamba lobadwa.

Makanda obadwa ndi matenda a Edwards Syndrome (Trisomy 18) amafunika chisamaliro chapadera nthawi yomweyo atangobadwa, mogwirizana ndi zizindikiro zawo.Mwayi wopulumuka ndi wochepa kwambiri, makamaka ngati mwana wachedwa kukula kwa ziwalo kapena vuto la mtima lobadwa nalo. Pa 10% ya ana omwe amapulumuka tsiku lawo loyamba lobadwa, ana ena amakhala ndi moyo wabwino kwambiri chifukwa chothandizidwa kwambiri ndi mabanja awo ndi osamalira. Koma nthawi zambiri saphunzira kuyenda kapena kulankhula.

Ndiyenera kupita kwa dokotala liti?

Mwana amene ali ndi matenda a Edwards syndrome (Trisomy 18) akali m'mimba, pamakhala chiopsezo chotaya mimba kapena kutaya mimba. Ngati muli ndi pakati, pitani kuchipatala nthawi yomweyo ngati muli ndi zizindikiro za kutaya mimba :

• Kuwawa kwam'mimba.
• Ngati mukumva kuzizira komanso kutentha thupi.
• Kupweteka kwa msana.
• Ngati mukutuluka magazi ambiri kuposa mwachizolowezi (kutuluka magazi ambiri).
• Kupweteka m'mimba m'munsi.

Kodi ndiyenera kupita ku chipinda chadzidzidzi liti?

Ngati mwana wanu wobadwa ndi Edwards Syndrome (Trisomy 18) ali ndi zizindikiro izi, mutengereni kuchipatala mwamsanga, kapena imbani 1990 :

• Ngati mukupuma mofulumira kwambiri kapena pang'onopang'ono kwambiri, kapena simukupuma konse.
• Ngati khungu kapena milomo yasanduka yabuluu kapena yofiirira.
• Ngati kugunda kwa mtima kuli kofulumira kwambiri.
• Ngati n'kovuta kudya.
• Ngati thupi lonse latupa.

Ndi mafunso ati omwe ndiyenera kufunsa dokotala wanga?

Mu mkhalidwe uwu, mungakhale ndi mafunso ambiri. Funsani dokotala wanu za zinthu monga:

• "Kodi ndi zoopsa zotani zokhala ndi mwana wokhala ndi vuto la majini?"
• "Ndi mankhwala otani omwe angaperekedwe pa zizindikiro za mwana wanga?"
• "Ndingatani kuti nditsimikizire kuti mwana wanga ali ndi thanzi labwino panthawi ya mimba?"

Kuzindikira matenda a Edwards Syndrome (Trisomy 18) kungakhale kovuta kwambiri. Mavuto omwe amabwera chifukwa cha matendawa akhoza kukhala ovuta kwambiri. Dokotala wanu adzakuthandizani inu ndi banja lanu paulendowu , kaya ndi kuthana ndi matenda a mwana wanu kapena kuthana ndi imfa ya mwana wanu. Ngati mukukonzekera kutenga pakati, lankhulani ndi dokotala wanu za upangiri wa majini kuti mudziwe za chiopsezo chanu chokhala ndi mwana wokhala ndi matenda a majini.

Zinthu zofunika kwambiri kukumbukira (Uthenga Wopita Nawo Kunyumba)

Chabwino, tiyeni tifotokoze mwachidule zina mwa zinthu zomwe takambirana zomwe ndikuganiza kuti zidzakhala zofunika kwa inu:

• Edwards Syndrome, kapena Trisomy 18, ndi matenda oopsa a majini .
• Izi zimachitika chifukwa cha kopi yowonjezera ya chromosome 18. Izi ndi zamwayi, osati vuto la makolo.
• Izi zitha kuzindikirika kudzera mu ma scan ndi mayeso ena apadera (`(Amniocentesis)`, `(CVS)`) omwe amachitidwa panthawi ya mimba.
• Palibe mankhwala a vutoli, chithandizocho cholinga chake ndi kuchepetsa zizindikiro ndikupangitsa mwana kukhala womasuka.
• Makanda ambiri samakhala ndi moyo wautali , koma ana ena amapulumuka ndi chikondi ndi chithandizo cha mabanja awo.
• Ngati muli ndi pakati ndipoNgati mukuwonetsa zizindikiro za mimba yomwe yapita, funsani upangiri wa dokotala nthawi yomweyo.
• Ngati mwapezeka ndi vutoli, simuli nokha . Pezani thandizo kuchokera kwa madokotala, abale, ndi maupangiri.

Ndikukhulupirira kuti izi zikuthandizani. N'zovuta kukambirana nkhani zovuta ngati izi, koma ndikofunikira kudziwa.

Matenda a Edwards, Trisomy 18, Matenda a Majini, Ma Chromosomu, Mimba, Thanzi la Mwana, Zilema Zobadwa Nazo